A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2944850



Internal ID15716296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:148376135..148379271hg38UCSC Ensembl
Innerchr7:148073227..148076363hg19UCSC Ensembl
Innerchr7:147704160..147707296hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg383137
hg193137
hg183137
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv514457
Supporting Variants
SamplesNA18973
Known GenesCNTNAP2
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2944850
Frequency
Sample Size2366
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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